2002
DOI: 10.1086/340733
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Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene

Abstract: Primary open-angle glaucoma (POAG) is an optic neuropathy that has a high worldwide prevalence and that shows strong evidence of complex inheritance. The myocilin (MYOC) gene is the only one that has thus far been shown to have mutations in patients with POAG. Apolipoprotein E (APOE) plays an essential role in lipid metabolism, and the APOE gene has been involved in neuronal degeneration that occurs in Alzheimer disease (AD). Here, we report that two APOE-promoter single-nucleotide polymorphisms (SNPs) previou… Show more

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Cited by 95 publications
(44 citation statements)
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“…Apolipoprotein E (APOE), which is associated with Alzheimer disease, was reported to also modify the glaucoma phenotype. A promoter polymorphism was associated with increased optic nerve damage, while other polymorphisms interacted with a glaucoma gene; MYOC polymorphism tends to increase the IOP in POAG patients (Copin et al 2002). The APOEε 3 and APOEε 4 (Vickers et al 2002) alleles are associated with elevated risk for glaucomatous changes.…”
Section: Other Glaucoma Associated Genesmentioning
confidence: 99%
“…Apolipoprotein E (APOE), which is associated with Alzheimer disease, was reported to also modify the glaucoma phenotype. A promoter polymorphism was associated with increased optic nerve damage, while other polymorphisms interacted with a glaucoma gene; MYOC polymorphism tends to increase the IOP in POAG patients (Copin et al 2002). The APOEε 3 and APOEε 4 (Vickers et al 2002) alleles are associated with elevated risk for glaucomatous changes.…”
Section: Other Glaucoma Associated Genesmentioning
confidence: 99%
“…Some investigators suggest that MYOC promoter variants may influence the progression of glaucoma (10,11,29), while others disagree with this conclusion (2). Since human patients are currently offered genetic testing based on the presence of noncoding variants, the issue is very important.…”
mentioning
confidence: 99%
“…[51][52][53][54][55][56][57] Although these are generally assumed to be connected via a common pathway of neuronal degeneration, it is intriguing to postulate that the underlying causes of some forms of these insidious diseases of aging might be via common or related effects within the outflow pathway. Consistent with this possibility, the JCTM cells showed relative overexpression of microtubuleassociated t protein, a constituent of neurofibrillary tangles.…”
Section: Discussionmentioning
confidence: 99%